Mutagenetix > Incidental Mutation

Incidental Mutation 'R4062:Bnip3l'

315929

Institutional Source

Beutler Lab

Gene Symbol

Bnip3l

Ensembl Gene

ENSMUSG00000022051

Gene Name

BCL2/adenovirus E1B interacting protein 3-like

Synonyms

Nip3L, D14Ertd719e, Nix

MMRRC Submission

040971-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.440) question?

Stock #

R4062 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67222688-67246326 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67246187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 16 (N16S)

Ref Sequence

ENSEMBL: ENSMUSP00000106744 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022634] [ENSMUST00000111115]

AlphaFold

Q9Z2F7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022634
AA Change: N16S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022634
Gene: ENSMUSG00000022051
AA Change: N16S

Domain	Start	End	E-Value	Type
Pfam:BNIP3	13	217	3.4e-88	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111115
AA Change: N16S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106744
Gene: ENSMUSG00000022051
AA Change: N16S

Domain	Start	End	E-Value	Type
Pfam:BNIP3	13	204	5.3e-80	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit abnormal morphology, decreased numbers and increased fragility of reticulocyte and erythcrocyte. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	T	1: 53,197,928 (GRCm39)	L140Q	probably damaging	Het
Adam17	T	C	12: 21,375,458 (GRCm39)	D787G	probably damaging	Het
Adamtsl4	T	C	3: 95,584,864 (GRCm39)	K935E	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Cd320	T	A	17: 34,066,491 (GRCm39)	N90K	probably benign	Het
Cdc40	A	T	10: 40,725,848 (GRCm39)		probably null	Het
Clec4b1	C	A	6: 123,045,443 (GRCm39)	H55N	probably benign	Het
Cyp4a10	A	T	4: 115,376,898 (GRCm39)	R87S	probably benign	Het
Duoxa2	G	T	2: 122,131,058 (GRCm39)	S73I	probably damaging	Het
Dytn	A	G	1: 63,686,606 (GRCm39)	C355R	probably benign	Het
Emilin3	T	C	2: 160,749,716 (GRCm39)	T631A	probably benign	Het
Ep400	A	T	5: 110,889,847 (GRCm39)	M472K	probably benign	Het
Erap1	G	T	13: 74,811,655 (GRCm39)	M338I	probably benign	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fanca	T	C	8: 124,001,911 (GRCm39)	T1061A	probably benign	Het
Fat1	A	T	8: 45,478,518 (GRCm39)	E2521D	probably benign	Het
Gcdh	T	C	8: 85,619,082 (GRCm39)	I152V	probably damaging	Het
Gls	T	C	1: 52,235,907 (GRCm39)	K403E	probably damaging	Het
Gorasp2	T	C	2: 70,509,857 (GRCm39)	C173R	probably damaging	Het
Greb1l	G	A	18: 10,522,150 (GRCm39)	V749I	probably damaging	Het
Hnrnpll	T	C	17: 80,340,201 (GRCm39)	H526R	probably benign	Het
Il18r1	G	A	1: 40,514,096 (GRCm39)	V101I	probably benign	Het
Incenp	A	T	19: 9,861,142 (GRCm39)	M480K	unknown	Het
Isl1	T	A	13: 116,439,626 (GRCm39)	I241F	probably benign	Het
Kdm6a	A	G	X: 18,117,114 (GRCm39)	T266A	probably benign	Het
Lcp1	T	C	14: 75,452,620 (GRCm39)	V442A	probably damaging	Het
Mast3	A	G	8: 71,233,838 (GRCm39)	V969A	probably damaging	Het
Mbnl1	T	C	3: 60,511,176 (GRCm39)	L136P	probably damaging	Het
Mrps24	G	A	11: 5,654,676 (GRCm39)	R93*	probably null	Het
Nkd2	C	T	13: 73,970,809 (GRCm39)	G258R	probably null	Het
Obscn	T	C	11: 58,973,536 (GRCm39)	T1932A	probably damaging	Het
Otop2	G	A	11: 115,220,201 (GRCm39)	G347D	probably damaging	Het
Plagl1	TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC	TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC	10: 13,004,515 (GRCm39)		probably benign	Het
Ptpn18	A	T	1: 34,512,011 (GRCm39)	H45L	possibly damaging	Het
Rab3il1	T	C	19: 10,003,988 (GRCm39)	S36P	probably benign	Het
Rims1	G	T	1: 22,572,664 (GRCm39)	N512K	probably benign	Het
Rinl	T	C	7: 28,490,140 (GRCm39)	Y60H	probably benign	Het
Scamp2	G	T	9: 57,484,545 (GRCm39)		probably null	Het
Septin9	T	C	11: 117,243,091 (GRCm39)	S324P	probably damaging	Het
Sh3pxd2b	G	T	11: 32,372,263 (GRCm39)	A477S	probably benign	Het
Soat2	A	G	15: 102,069,526 (GRCm39)	T396A	possibly damaging	Het
Tenm2	C	T	11: 35,899,482 (GRCm39)	G2559S	probably damaging	Het
Tpcn1	G	A	5: 120,695,962 (GRCm39)	A97V	possibly damaging	Het
Trdn	A	G	10: 33,133,083 (GRCm39)	E311G	probably benign	Het
Usp13	T	C	3: 32,935,572 (GRCm39)	Y333H	probably damaging	Het
Usp18	A	G	6: 121,238,326 (GRCm39)	T158A	probably benign	Het
Vmn1r118	G	T	7: 20,645,933 (GRCm39)	Q114K	probably damaging	Het
Wwp1	A	T	4: 19,638,644 (GRCm39)	N566K	possibly damaging	Het
Zfp292	A	G	4: 34,810,863 (GRCm39)	V727A	probably damaging	Het

Other mutations in Bnip3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2070:Bnip3l	UTSW	14	67,226,671 (GRCm39)	missense	probably damaging	0.99
R4828:Bnip3l	UTSW	14	67,246,208 (GRCm39)	missense	probably damaging	0.98
R5068:Bnip3l	UTSW	14	67,237,081 (GRCm39)	missense	possibly damaging	0.74
R5139:Bnip3l	UTSW	14	67,237,064 (GRCm39)	missense	probably damaging	1.00
R5327:Bnip3l	UTSW	14	67,225,180 (GRCm39)	missense	probably damaging	1.00
R6995:Bnip3l	UTSW	14	67,237,101 (GRCm39)	missense	probably benign	0.33
R8050:Bnip3l	UTSW	14	67,226,651 (GRCm39)	missense	probably damaging	1.00
R9503:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9504:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9532:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9534:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9537:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9540:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9590:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9591:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9592:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9593:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9638:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9639:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9669:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9670:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9672:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9734:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9735:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9737:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9738:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9740:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9767:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AATCTCGGTCCCAACCAATGAG -3'
(R):5'- CTGTGTTGTCATCACATGGTCCG -3'

Sequencing Primer
(F):5'- AACCAATGAGCTGTCGTCTG -3'
(R):5'- GGAACTCGACTTGTTGTG -3'

Posted On

2015-05-15